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Article

First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.

BMC medical genomics - 19 Jan 2026

Huang Shengjing, Chen Zefu, Zhang Lin, Ding Xiuxiu, Miu Keji

Abstract excerpt

BACKGROUND: Birt–Hogg–Dubé syndrome (BHDS) is a rare inherited disorder defined by skin lesions, pulmonary cysts, spontaneous pneumothorax, and renal neoplasia. Mutations in the FLCN gene are known causes, and identifying specific variants in different populations is essential for elucidating genotype-phenotype correlations. METHODS: We investigated a Chinese family with suspected BHDS. The proband was admitted...

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Identifiers

PMID: 41549261
DOI: 10.1186/s12920-026-02311-y
PMCID: PMC12896179

Genes

FLCN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.PMID 41549261Read ↗

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